首页> American journal of medical genetics. Part A> FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

FOXC1 haploinsufficiency due to 6p25 deletion in a patient with rapidly progressing aortic valve disease.

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第一作者： Caroline,Ovaert

第一单位： Department of Pediatric and Congenital Cardiology, Timone Enfant, AP-HM, Marseille, France.;Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France.

作者： Caroline,Ovaert ^[1] ; Tiffany,Busa ^[2] ; Emilie,Faure ^[3] ; Chantal,Missirian ^[2] ; Nicole,Philip ^[2] ; Florent,Paoli ^[4] ; Mathieu,Milh ^[5] ; Loic,Macé ^[4] ; Stephane,Zaffran ^[3]

作者单位： Department of Pediatric and Congenital Cardiology, Timone Enfant, AP-HM, Marseille, France.;Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France. ^[1] Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France.;Department of Clinical Genetics, Timone Enfant, AP-HM, Marseille, France. ^[2] Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France. ^[3] Department of Pediatric and Congenital Cardiology, Timone Enfant, AP-HM, Marseille, France. ^[4] Faculté de Médecine, Inserm, GMGF, UMR_S910, Aix Marseille Université, Marseille, France.;Department of Pediatric Neurology, Timone Enfant, AP-HM, Marseille, France. ^[5]

关键词 6p25 deletion FOXC1 aortic valve disease genetics